Duchenne muscular dystrophy

Duchenne muscular dystrophy or Pseudohypertrophic muscular dystrophy is just one of the many types of muscular dystophy. Duchenne muscualr dystrophy is a genetic disorder where muscle is destroyed an replaced with fat and connective tissue. This disease is caused by a defective gene for dystrophin (a protien in the muscles). Symptoms usally appear from infancy to the age 6. French neurologist Guillaume Benjamin discovered the disease and named the disease after himself. The symptoms of Duchenne muscular dystrophy include:
  • fatigue
  • mental retardation (but it doesn't worsen over time)
  • Muscle weakness
-starts at the legs and pelvis, but it also occurs in the arms, neck, and other areas of the body but less severely.
-Difficulty with motor skills like running and jumping.
-falls frequently
-weakness rapidly worsens
-increasing difficultly walking (ability to walk may be lost by the age 12)

There is no known cure for this disease. The only treatment is physical therapy slow down muscle reduction. Orthopedic appliances like wheelchairs and braces are given to improve mobility and self care.
Duchenne muscular dystrophy leads to rapidly worsening disability. Death usually occurs by the age 25, most of the time from lung disorders.

Genetic counseling is recommended if there is a family history of the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
Duchenne muscular dystrophy is an X linked recessive genetic disorder. It occurs to people that have families known to have this disorder. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers. Because of the way the disease is inherited, males are more likely to have it than women are. About 1 out of every 3,600 male babies will have Duchenne muscular dystrophy.
X-linked recessive genetic defects
X-linked recessive genetic defects